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Inborn errors of metabolism

Gene: PIGM

Amber List (moderate evidence)

PIGM (phosphatidylinositol glycan anchor biosynthesis class M)
EnsemblGeneIds (GRCh38): ENSG00000143315
EnsemblGeneIds (GRCh37): ENSG00000143315
OMIM: 610273, Gene2Phenotype
PIGM is in 5 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 1 variant was reported in 2 unrelated families (PMID 16767100), together with supportive functional studies (PMID 17442906 & 25293775).
Created: 19 Aug 2019, 3:45 p.m. | Last Modified: 19 Aug 2019, 3:45 p.m.
Panel Version: 1.232
Comment on phenotypes: Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation;Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Created: 19 Aug 2019, 3:23 p.m. | Last Modified: 19 Aug 2019, 3:23 p.m.
Panel Version: 1.228

Ellen McDonagh (Genomics England Curator)

Added tags to indicate a promoter variant has been reported.
Created: 1 Mar 2017, 11:54 a.m.

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM, not in G2P. At least 1 promoter variant reported in 3 cases from 2 unrelated consanguineous families. PIGM is subject to cell-type specific transcriptional regulation
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycosylphosphatidylinositol deficiency 610293

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Glycosylphosphatidylinositol deficiency 610293
OMIM
610273
Clinvar variants
Variants in PIGM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pigm has been classified as Amber List (Moderate Evidence).

19 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pigm has been classified as Amber List (Moderate Evidence).

19 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pigm has been classified as Amber List (Moderate Evidence).

19 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PIGM were set to 27604308; 16767100; 25293775; 17442906

19 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PIGM were set to 27604308; 16767100; 25293775; 17442906; 25293775

19 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PIGM were set to 27604308; 16767100; 25293775

19 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PIGM were changed from Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation; Glycosylphosphatidylinositol deficiency, 610293; Glycosylphosphatidylinositol deficiency 610293; Phosphatidylinositolglycan, class M deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency to Glycosylphosphatidylinositol deficiency 610293

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PIGM. Source London North GLH was added to PIGM.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Phosphatidylinositolglycan, class M deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Glycosylphosphatidylinositol deficiency 610293 for gene: PIGM

16 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PIGM was added gene: PIGM was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PIGM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGM were set to 27604308; 16767100; 25293775 Phenotypes for gene: PIGM were set to Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation; Glycosylphosphatidylinositol deficiency, 610293; Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency